Canonical Allele Identifier: CA384357498

Gene: DNM1L YARS2

Linked Data

• ClinVar Variation Id: 2090349
• ClinVar RCV Id: RCV003020865
• MyVariant Identifiers: chr12:g.32884061A>G (hg19) ; chr12:g.32731127A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.32731127A>G , CM000674.2:g.32731127A>G	GRCh38
NC_000012.11:g.32884061A>G , CM000674.1:g.32884061A>G	GRCh37
NC_000012.10:g.32775328A>G	NCBI36
NG_012219.1:g.56925A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000434676.7:c.*559A>G (DNM1L)	ENSP00000390090.2:n.*559A>G
ENST00000546757.6:c.*879A>G (DNM1L)	ENSP00000448105.2:n.*879A>G
ENST00000547078.6:c.1232A>G (DNM1L)	ENSP00000448802.2:p.Asn411Ser
ENST00000547719.2:n.2826A>G (DNM1L)
ENST00000547932.6:c.*559A>G (DNM1L)	ENSP00000515272.1:n.*559A>G
ENST00000548671.6:c.*740A>G (DNM1L)	ENSP00000515271.1:n.*740A>G
ENST00000548750.6:c.1106A>G (DNM1L)	ENSP00000447788.2:p.Asn369Ser
ENST00000549926.6:c.746A>G (DNM1L)	ENSP00000515263.1:p.Asn249Ser
ENST00000550011.6:c.*1183A>G (DNM1L)	ENSP00000515261.1:n.*1183A>G
ENST00000550093.6:n.1280A>G (DNM1L)
ENST00000551076.6:c.*810A>G (DNM1L)	ENSP00000515275.1:n.*810A>G
ENST00000551476.6:c.1142A>G (DNM1L)	ENSP00000447845.2:p.Asn381Ser
ENST00000551643.6:c.*1024A>G (DNM1L)	ENSP00000450401.1:n.*1024A>G
ENST00000703337.1:c.*990A>G (DNM1L)	ENSP00000515262.1:n.*990A>G
ENST00000703338.1:c.746A>G (DNM1L)	ENSP00000515264.1:p.Asn249Ser
ENST00000703360.1:c.*879A>G (DNM1L)	ENSP00000515270.1:n.*879A>G
ENST00000703361.1:c.824A>G (DNM1L)	ENSP00000515273.1:p.Asn275Ser
ENST00000703362.1:c.*559A>G (DNM1L)	ENSP00000515274.1:n.*559A>G
ENST00000703363.1:n.2814A>G (DNM1L)
ENST00000703364.1:n.2891A>G (DNM1L)
ENST00000703365.1:c.*58A>G (DNM1L)	ENSP00000515276.1:n.*58A>G
ENST00000703366.1:n.2253A>G (DNM1L)
ENST00000703367.1:c.1193A>G (DNM1L)	ENSP00000515277.1:p.Asn398Ser
ENST00000703368.1:c.*740A>G (DNM1L)	ENSP00000515278.1:n.*740A>G
ENST00000703369.1:c.824A>G (DNM1L)	ENSP00000515279.1:p.Asn275Ser
ENST00000703370.1:c.746A>G (DNM1L)	ENSP00000515280.1:p.Asn249Ser
ENST00000703371.1:c.746A>G (DNM1L)	ENSP00000515281.1:p.Asn249Ser
ENST00000703372.1:c.986A>G (DNM1L)	ENSP00000515282.1:p.Asn329Ser
ENST00000549701.6:c.1193A>G (DNM1L) MANE Select	ENSP00000450399.1:p.Asn398Ser
ENST00000553257.6:c.1232A>G (DNM1L) MANE Plus Clinical	ENSP00000449089.1:p.Asn411Ser
ENST00000266481.10:c.1193A>G (DNM1L)	ENSP00000266481.6:p.Asn398Ser
ENST00000358214.9:c.1232A>G (DNM1L)	ENSP00000350948.5:p.Asn411Ser
ENST00000381000.8:c.1232A>G (DNM1L)	ENSP00000370388.4:p.Asn411Ser
ENST00000413295.6:c.*442A>G (DNM1L)	ENSP00000396030.2:n.*442A>G
ENST00000414834.6:c.584A>G (DNM1L)	ENSP00000404160.2:p.Asn195Ser
ENST00000452533.6:c.1193A>G (DNM1L)	ENSP00000415131.2:p.Asn398Ser
ENST00000546649.5:c.*435A>G (DNM1L)	ENSP00000448936.1:n.*435A>G
ENST00000546757.5:c.1044A>G (DNM1L)	ENSP00000448105.1:n.1044A>G
ENST00000547312.5:c.1193A>G (DNM1L)	ENSP00000448610.1:p.Asn398Ser
ENST00000549701.5:c.1193A>G (DNM1L)	ENSP00000450399.1:p.Asn398Ser
ENST00000551673.5:n.460-3608T>C (YARS2)
ENST00000553257.5:c.1232A>G (DNM1L)	ENSP00000449089.1:p.Asn411Ser
NM_001278463.1:c.1193A>G (DNM1L)	NP_001265392.1:p.Asn398Ser
NM_001278464.1:c.1232A>G (DNM1L)	NP_001265393.1:p.Asn411Ser
NM_001278465.1:c.1232A>G (DNM1L)	NP_001265394.1:p.Asn411Ser
NM_001278466.1:c.584A>G (DNM1L)	NP_001265395.1:p.Asn195Ser
NM_005690.4:c.1193A>G (DNM1L)	NP_005681.2:p.Asn398Ser
NM_012062.4:c.1193A>G (DNM1L)	NP_036192.2:p.Asn398Ser
NM_012063.3:c.1193A>G (DNM1L)	NP_036193.2:p.Asn398Ser
XM_005253282.3:c.1232A>G (DNM1L)	XP_005253339.1:p.Asn411Ser
XM_005253283.3:c.746A>G (DNM1L)	XP_005253340.1:p.Asn249Ser
XM_011520543.1:c.1232A>G (DNM1L)	XP_011518845.1:p.Asn411Ser
XM_011520544.1:c.536A>G (DNM1L)	XP_011518846.1:p.Asn179Ser
XR_242891.3:n.1832+505T>C (YARS2)
XR_242892.3:n.1650-5762T>C (YARS2)
XR_429036.1:n.1707+505T>C (YARS2)
XR_931297.1:n.1832+505T>C (YARS2)
XR_931298.1:n.1707+505T>C (YARS2)
XR_931299.1:n.1650-3608T>C (YARS2)
NM_001330380.1:c.1232A>G (DNM1L)	NP_001317309.1:p.Asn411Ser
XM_011520543.3:c.1232A>G (DNM1L)	XP_011518845.1:p.Asn411Ser
XM_011520544.2:c.536A>G (DNM1L)	XP_011518846.1:p.Asn179Ser
XM_017018663.2:c.536A>G (DNM1L)	XP_016874152.1:p.Asn179Ser
XM_017018664.1:c.536A>G (DNM1L)	XP_016874153.1:p.Asn179Ser
XM_017018665.1:c.536A>G (DNM1L)	XP_016874154.1:p.Asn179Ser
XR_001748730.2:n.2272-5762T>C (YARS2)
XR_002957331.1:n.2147-3608T>C (YARS2)
XR_242892.5:n.2147-5762T>C (YARS2)
NM_012062.5:c.1193A>G (DNM1L) MANE Select	NP_036192.2:p.Asn398Ser
NM_001278463.2:c.1193A>G (DNM1L)	NP_001265392.1:p.Asn398Ser
NM_001278464.2:c.1232A>G (DNM1L) MANE Plus Clinical	NP_001265393.1:p.Asn411Ser
NM_001278465.2:c.1232A>G (DNM1L)	NP_001265394.1:p.Asn411Ser
NM_001278466.2:c.584A>G (DNM1L)	NP_001265395.1:p.Asn195Ser
NM_001330380.2:c.1232A>G (DNM1L)	NP_001317309.1:p.Asn411Ser
NM_005690.5:c.1193A>G (DNM1L)	NP_005681.2:p.Asn398Ser
NM_012063.4:c.1193A>G (DNM1L)	NP_036193.2:p.Asn398Ser